Insights into the genetic landscape of systemic sclerosis.

IF 4.5 2区 医学 Q1 RHEUMATOLOGY Best Practice & Research in Clinical Rheumatology Pub Date : 2024-07-26 DOI:10.1016/j.berh.2024.101981
Ali El-Halwagi, Sandeep K Agarwal
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Abstract

Systemic sclerosis (SSc) is a complex autoimmune disease that clinically manifests as progressive fibrosis of the skin and internal organs. Autoimmunity and endothelial dysfunction play important roles in the development of SSc but the causes of SSc remain unknown. Accumulating evidence, first from familial aggregation studies and subsequently from candidate gene association studies and genome wide association studies underscore the crucial contributions of genetics to the development of SSc. The identification of polymorphisms in the HLA region as well as non-HLA loci is important for understanding the risks of developing SSc but can also provide important pathogenic insight in SSc. While not translating into clinic practice yet, understanding the genetic landscape of SSc will hopefully assist in the diagnosis and management of patients with and/or at risk of developing SSc in the future. Herein we review the studies that investigate genetic risks of SSc susceptibility.

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洞察系统性硬化症的基因状况。
系统性硬化症(SSc)是一种复杂的自身免疫性疾病,临床表现为皮肤和内脏器官的进行性纤维化。自身免疫和内皮功能障碍在系统性硬化症的发病过程中起着重要作用,但系统性硬化症的病因仍然不明。越来越多的证据,首先是来自家族聚集研究,随后是候选基因关联研究和全基因组关联研究,都强调了遗传学对 SSc 发病的关键作用。鉴定 HLA 区域和非 HLA 位点的多态性对于了解 SSc 的发病风险非常重要,同时也能为 SSc 的致病提供重要启示。虽然目前还不能转化为临床实践,但了解 SSc 的遗传情况将有助于今后对 SSc 患者和/或有患病风险的患者进行诊断和管理。在此,我们回顾了有关 SSc 易感性遗传风险的研究。
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来源期刊
CiteScore
9.40
自引率
0.00%
发文量
43
审稿时长
27 days
期刊介绍: Evidence-based updates of best clinical practice across the spectrum of musculoskeletal conditions. Best Practice & Research: Clinical Rheumatology keeps the clinician or trainee informed of the latest developments and current recommended practice in the rapidly advancing fields of musculoskeletal conditions and science. The series provides a continuous update of current clinical practice. It is a topical serial publication that covers the spectrum of musculoskeletal conditions in a 4-year cycle. Each topic-based issue contains around 200 pages of practical, evidence-based review articles, which integrate the results from the latest original research with current clinical practice and thinking to provide a continuous update. Each issue follows a problem-orientated approach that focuses on the key questions to be addressed, clearly defining what is known and not known. The review articles seek to address the clinical issues of diagnosis, treatment and patient management. Management is described in practical terms so that it can be applied to the individual patient. The serial is aimed at the physician in both practice and training.
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